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    GENE:

    MLH1 (MutL homolog 1)

    i
    Other names: MLH1, COCA2, FCC2, HNPCC, HNPCC2, MutL homolog 1
    2d
    CRISPR-Cas9-induced double-strand breaks disrupt maintenance of epigenetic information. (PubMed, Genome Biol)
    This study underscores the importance of assessing and mitigating unintended epigenetic consequences in genome editing applications, as such changes can profoundly affect gene regulation and cellular function.
    Journal
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    MLH1 (MutL homolog 1)
    3d
    Identification and in silico evaluation of natural compounds from Annona muricata (soursop) leaves for colon cancer treatment. (PubMed, Sci Rep)
    Results demonstrated that these phytochemicals exhibited superior binding affinities compared to standard therapy, 5-fluorouracil, with alpha-tocopherol notably outperforming it...Stability assessments showed consistent parameters throughout the simulation. Overall, the prioritized phytochemicals from A. muricata, especially alpha-tocopherol, exhibit significant anticancer potential and stability, supporting further experimental validation and development as therapeutic agents for colon cancer.
    Journal
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    MLH1 (MutL homolog 1)
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    5-fluorouracil
    6d
    Transvaginal Ultrasound and Photoacoustic Imaging of Ovary (clinicaltrials.gov)
    P=N/A, N=310, Recruiting, Washington University School of Medicine | Trial completion date: Jan 2028 --> Jan 2027 | Trial primary completion date: Jan 2028 --> Jan 2027
    Trial completion date • Trial primary completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1)
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    BARD1 mutation
    7d
    Prevalence of DNA Mismatch Repair Deficiencies in Multiple Solid Tumor Types in China. (PubMed, J Evid Based Med)
    These data highlight the importance of dMMR testing in patients with advanced solid tumors in China to optimize biomarker testing and treatment decisions.
    Journal • Mismatch repair • IO biomarker
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR
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    Ventana MMR RxDx Panel
    7d
    Clinicopathological features and mutational landscape of colorectal cancer subgroups defined by MSI and EMAST status. (PubMed, Pathol Res Pract)
    MSS/EMAST-L tumors aligned with chromosomally stable, KRAS/Wnt-driven CRC. In conclusion, MSS/EMAST-H tumors represent an underrecognized CRC subtype with intermediate genomic instability and a distinctive molecular profile, with potential implications for prognostic assessment and personalized therapeutic strategies.
    Journal • MSi-H Biomarker
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    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
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    TP53 mutation • KRAS mutation • MSI-H/dMMR • BRAF mutation • PIK3CA mutation
    8d
    Diagnostic Accuracy of Immunohistochemistry Testing on Sebaceous Gland Neoplasms for Muir-Torre Syndrome: A Meta-Analysis. (PubMed, J Cutan Pathol)
    IHC testing can discriminate between sporadic and MTS-associated sebaceous neoplasms, but diagnostic utility is limited by low specificity. Most MMR-deficient cases are not due to MTS.
    Retrospective data • Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    8d
    MLH1 Promoter Variant -93G>A and Breast Cancer Susceptibility: Evidence from Azerbaijan. (PubMed, Biomedicines)
    Although the associations were nominal and require validation in larger cohorts, the findings point to a biologically plausible link between MLH1 promoter variation and impaired MMR activity, which may contribute to polygenic breast cancer risk. These preliminary results emphasize the importance of evaluating MMR gene variants in underrepresented populations and support further studies integrating functional assays and broader gene coverage.
    Journal
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    MLH1 (MutL homolog 1)
    8d
    Association Between MMR Status and Prognostic Pathological Factors in Endometrioid Endometrial Cancer-A Single-Center Retrospective Study. (PubMed, Cancers (Basel))
    In the studied population, dMMR tumors more frequently exhibited adverse prognostic features of EC, such as advanced stage of disease and lymphovascular space invasion. This suggests the potential for effective immunotherapy in this patient group.
    Retrospective data • Journal • IO biomarker
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    ER (Estrogen receptor) • TP53 (Tumor protein P53) • PGR (Progesterone receptor) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR
    8d
    Pitfalls in MLH1 promoter methylation assessment, including POLEmut/MLH1meth endometrial adenocarcinoma. (PubMed, Pathol Res Pract)
    Comprehensive genomic profiling assay was informative, allowing for correlation of MLH1 methylation and POLE genotype results with tumor mutation burden and mutational signature. Taken together, our data highlight the need for integrated approach in endometrial carcinoma biomarker testing, integrating NGS and MLH1 promoter methylation status, the latter of which benefits from assessing both regions C and D. Finding of MLH1 promoter methylation does not rule out either Lynch syndrome or ultramutated (POLE) carcinoma.
    Journal • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1)
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    POLE mutation
    9d
    Bridging Andrology and Oncology: Prognostic Indicators of Cancer Among Infertile Men. (PubMed, Curr Issues Mol Biol)
    The possibility of incorporating these indicators into risk stratification models for precision medicine and early cancer surveillance is highlighted. For this high-risk group, bridging the domains of andrology and oncology may allow for better counseling, earlier detection, and focused therapies.
    Review • Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2)
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    TP53 mutation
    9d
    Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region. (PubMed, Cells)
    Therapeutic annotation using OncoKB identified 223 actionable or likely oncogenic variants, highlighting potential targets for precision oncology. This study provides a comprehensive characterization of the breast cancer mutational landscape in MENA patients and offers a valuable resource for advancing genomic and therapeutic research in this demographic.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • SF3B1 (Splicing Factor 3b Subunit 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • ERCC2 (Excision repair cross-complementation group 2) • KMT2C (Lysine Methyltransferase 2C) • RAD51C (RAD51 paralog C) • ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit) • GATA3 (GATA binding protein 3)
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    TP53 mutation • PIK3CA mutation • ATM mutation • PTEN mutation
    9d
    Germline Mutation Analysis and Real-World Impact in a Selected Cohort of Patients with Non-Small Cell Lung Cancer: INHERITY LC Study. (PubMed, Clin Lung Cancer)
    The INHERITY LC study identified a PGV prevalence of 10.3% in a selected NSCLC cohort, with most variants affecting genes involved in the DNA damage repair (DDR) pathway. The application of specific selection criteria may enhance the yield of germline testing in this setting. Larger confirmatory studies are warranted to demonstrate that germline testing and genetic counseling for NSCLC may have implications for prevention, early detection, and treatment.
    Clinical • Journal • Real-world evidence • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • CHEK2 (Checkpoint kinase 2) • BARD1 (BRCA1 Associated RING Domain 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • XRCC2 (X-Ray Repair Cross Complementing 2)